Widespread dysregulation of mRNA splicing implicates RNA processing in the development and progression of Huntington's diseaseResearch in context

Authors: Vincent Tano, Kagistia Hana Utami, Nur Amirah Binte Mohammad Yusof, Jocelyn Bégin, Willy Wei Li Tan, Mahmoud A. Pouladi, Sarah R. Langley

Source: EBioMedicine, Vol 94, Iss , Pp 104720- (2023)

Subject Terms: Huntington's disease, Alternative splicing, mRNA processing, Neurodegenerative disease, High-throughput RNA-sequencing, Proteomics, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396423002852; https://doaj.org/toc/2352-3964

Access URL: https://doaj.org/article/0f23e04ff244494bb2dc3c59e327de67

Elevated de novo protein synthesis in FMRP-deficient human neurons and its correction by metformin treatment

Authors: Kagistia Hana Utami, Nur Amirah Binte Mohammad Yusof, Jing Eugene Kwa, Ulla-Kaisa Peteri, Maija L. Castrén, Mahmoud A. Pouladi

Source: Molecular Autism, Vol 11, Iss 1, Pp 1-11 (2020)

Subject Terms: Fragile X syndrome, Human stem cells, Protein synthesis, Therapy, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13229-020-00350-5; https://doaj.org/toc/2040-2392

Access URL: https://doaj.org/article/59f859f2223448d5a9b6cbab3356d1c2

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Authors: Holger Hengel, Célia Bosso-Lefèvre, George Grady, Emmanuelle Szenker-Ravi, Hankun Li, Sarah Pierce, Élise Lebigot, Thong-Teck Tan, Michelle Y. Eio, Gunaseelan Narayanan, Kagistia Hana Utami, Monica Yau, Nader Handal, Werner Deigendesch, Reinhard Keimer, Hiyam M. Marzouqa, Meral Gunay-Aygun, Michael J. Muriello, Helene Verhelst, Sarah Weckhuysen, Sonal Mahida, Sakkubai Naidu, Terrence G. Thomas, Jiin Ying Lim, Ee Shien Tan, Damien Haye, Michèl A. A. P. Willemsen, Renske Oegema, Wendy G. Mitchell, Tyler Mark Pierson, Marisa V. Andrews, Marcia C. Willing, Lance H. Rodan, Tahsin Stefan Barakat, Marjon van Slegtenhorst, Ralitza H. Gavrilova, Diego Martinelli, Tal Gilboa, Abdullah M. Tamim, Mais O. Hashem, Moeenaldeen D. AlSayed, Maha M. Abdulrahim, Mohammed Al-Owain, Ali Awaji, Adel A. H. Mahmoud, Eissa A. Faqeih, Ali Al Asmari, Sulwan M. Algain, Lamyaa A. Jad, Hesham M. Aldhalaan, Ingo Helbig, David A. Koolen, Angelika Riess, Ingeborg Kraegeloh-Mann, Peter Bauer, Suleyman Gulsuner, Hannah Stamberger, Alvin Yu Jin Ng, Sha Tang, Sumanty Tohari, Boris Keren, Laura E. Schultz-Rogers, Eric W. Klee, Sabina Barresi, Marco Tartaglia, Hagar Mor-Shaked, Sateesh Maddirevula, Amber Begtrup, Aida Telegrafi, Rolph Pfundt, Rebecca Schüle, Brian Ciruna, Carine Bonnard, Mahmoud A. Pouladi, James C. Stewart, Adam Claridge-Chang, Dirk J. Lefeber, Fowzan S. Alkuraya, Ajay S. Mathuru, Byrappa Venkatesh, Joseph J. Barycki, Melanie A. Simpson, Saumya S. Jamuar, Ludger Schöls, Bruno Reversade

Source: Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/669f0574667343e2aba272d086c020c6

A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects

Authors: Geetika Sahni, Shu‐Yung Chang, Jeremy Choon Meng Teo, Jerome Zu Yao Tan, Jean Jacques Clement Fatien, Carine Bonnard, Kagistia Hana Utami, Puck Wee Chan, Thong Teck Tan, Umut Altunoglu, Hülya Kayserili, Mahmoud Pouladi, Bruno Reversade, Yi‐Chin Toh

Source: Advanced Science, Vol 8, Iss 13, Pp n/a-n/a (2021)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2198-3844

Access URL: https://doaj.org/article/124cb9bd77d24377b9cd9c1a0ea5bb3c

Reversal of Phenotypic Abnormalities by CRISPR/Cas9-Mediated Gene Correction in Huntington Disease Patient-Derived Induced Pluripotent Stem Cells

Authors: Xiaohong Xu, Yilin Tay, Bernice Sim, Su-In Yoon, Yihui Huang, Jolene Ooi, Kagistia Hana Utami, Amin Ziaei, Bryan Ng, Carola Radulescu, Donovan Low, Alvin Yu Jin Ng, Marie Loh, Byrappa Venkatesh, Florent Ginhoux, George J. Augustine, Mahmoud A. Pouladi

Source: Stem Cell Reports, Vol 8, Iss 3, Pp 619-633 (2017)

Subject Terms: human induced pluripotent stem cell (hiPSC), neurodegenerative disorders, Huntington disease, genetic editing, disease modeling, disease phenotypes, transcriptional dysrgulation, CHCHD2, mitochondrial dysfunction, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213671117300383; https://doaj.org/toc/2213-6711

Access URL: https://doaj.org/article/4f3f159daf3f4a9482f774ea8af66b7b

Generation of the Human Pluripotent Stem-Cell-Derived Astrocyte Model with Forebrain Identity

Authors: Ulla-Kaisa Peteri, Juho Pitkonen, Kagistia Hana Utami, Jere Paavola, Laurent Roybon, Mahmoud A. Pouladi, Maija L. Castrén

Source: Brain Sciences, Vol 11, Iss 2, p 209 (2021)

Subject Terms: pluripotent stem cells, differentiation, astrocytes, patterning, fragile X syndrome, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.mdpi.com/2076-3425/11/2/209; https://doaj.org/toc/2076-3425

Access URL: https://doaj.org/article/8efc491040164c3f91217bb67381ae5e

A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

Authors: Poh Hui Chia, Franklin Lei Zhong, Shinsuke Niwa, Carine Bonnard, Kagistia Hana Utami, Ruizhu Zeng, Hane Lee, Ascia Eskin, Stanley F Nelson, William H Xie, Samah Al-Tawalbeh, Mohammad El-Khateeb, Mohammad Shboul, Mahmoud A Pouladi, Mohammed Al-Raqad, Bruno Reversade

Source: eLife, Vol 7 (2018)

Subject Terms: neurological disease, Mendelian disorder, oligomerization, intellectual disability, seizures, CAMK2, Medicine, Science, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://elifesciences.org/articles/32451; https://doaj.org/toc/2050-084X

Access URL: https://doaj.org/article/db6a2998912a4cdc9e37796ad1f08f29

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